View the Detailed Mosaic Information from PubMed ID: 28503910
Gene ID | Gene Symbol | Chr | Position |
---|---|---|---|
114792 | KLHL32 | 6 | 97561801 |
Ref | Alt | Genotype | Validated Method |
C | T | mosaic | PASM |
SSC ID | WES Depth | WES Alt Count | PASM Depth |
13267.s1 | 91 | 12 | 15261 |
PASM Maf | PASM MAF 95%CI lowerbound | PASM MAF 95%CI upperbound | Location |
0.103 | 0.098 | 0.108 | exonic |
iFish Probablity | iFish Prediction | SIFT | Phylop |
0.6898 | deleterious | 3.457 | |
Polyphen2_HDIV | Polyphen2_HVAR | MutationAssessor | GERP_RS |
5.09 | |||
dScore | CpG | Hydropathicity | Polarity |
2.4 | -2.2 |
Notes:
*iFish(Wang M, Wei L, PIMD: 27527004) is a supporting vector machine (SVM) based classifier which uses gene and gene family specific attributes. At the same time, iFish alsoprovides functional annotations from other classifiers such as: SIFT, Polyphen2, and MutationTaster2.
iFish utilized customized prediction cutoff for each classifier that maximizes the sum of sensitivity andspecificity.